Canonical Allele Identifier: CA3734279

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32062349G>T , CM000668.2:g.32062349G>T	GRCh38
NC_000006.11:g.32030126G>T , CM000668.1:g.32030126G>T	GRCh37
NC_000006.10:g.32138104G>T	NCBI36
NG_008337.2:g.52026C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.6976C>A MANE Select	NP_001352205.1:p.Pro2326Thr
ENST00000644971.2:c.6976C>A MANE Select	ENSP00000496448.1:p.Pro2326Thr
NM_001365276.1:c.6976C>A	NP_001352205.1:p.Pro2326Thr
NM_019105.6:c.6976C>A	NP_061978.6:p.Pro2326Thr
NM_019105.7:c.6976C>A	NP_061978.6:p.Pro2326Thr
NM_019105.8:c.6976C>A	NP_061978.6:p.Pro2326Thr
ENST00000375244.7:c.6976C>A	ENSP00000364393.3:p.Pro2326Thr
ENST00000611016.2:c.136C>A	ENSP00000483409.1:p.Pro46Thr
ENST00000647633.1:c.7717C>A	ENSP00000497649.1:p.Pro2573Thr